Porphyria

Definition

Porphyria is a group of disorders. The disorders lead to a buildup of porphyrins in the body. Porphyrins help to make a part of the red blood cell. Excess amounts of porphyrins can cause damage to your body. It most often affects the nervous system and skin.

Causes

Most types of porphyrias are inherited through genes. They may be passed on by 1 or both parents.

Risk Factors

Caucasians are at greater risk for porphyria. Women are also at increased risk, because porphyria is related to the menstrual cycle. The most common risk of porphyria is having a family member with the disease.

Porphyria attacks may be triggered by:

Drugs

Infections

Alcohol consumption

Dieting

Smoking

Stress

Symptoms

Porphyria can cause skin or nervous system problems. Urine may also be reddish in color or darken after standing in the light. Other specific symptoms will depend on the type of porphyria.

Acute Intermittent Porphyria (AIP)

Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms may include:

Prevention

Genetic testing may identify people at risk for porphyria. If there are people in your family with porphyria, you may be at risk. The counselor will help find the risks for this disorder in you and your offspring.

RESOURCES

American Liver Foundation
http://www.liverfoundation.org

National Institute of Diabetes and Digestive and Kidney Diseases
http://www2.niddk.nih.gov

CANADIAN RESOURCES

Canadian Liver Foundation
http://www.liver.ca

Canadian Organization for Rare Disorders
http://www.cord.ca

References

About porphyria.
The American Porphyria Foundation
website.
Available at:
http://porphyriafoundation.com/about-porphyria.
Accessed December 16, 2014.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.